Canonical Allele Identifier: CA397042006
Gene: CA5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87902511C>T , CM000678.2:g.87902511C>T GRCh38
NC_000016.9:g.87936117C>T , CM000678.1:g.87936117C>T GRCh37
NC_000016.8:g.86493618C>T NCBI36
NG_033227.1:g.38996G>A
NG_033227.2:g.39019G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648022.1:c.469G>A ENSP00000497934.1:p.Val157Ile
ENST00000648177.1:c.350G>A ENSP00000497626.1:p.Ser117Asn
ENST00000649158.1:c.469G>A ENSP00000496993.1:p.Val157Ile
ENST00000649794.3:c.469G>A MANE Select ENSP00000498065.2:p.Val157Ile
ENST00000309893.3:c.469G>A ENSP00000309649.2:p.Val157Ile
NM_001739.1:c.469G>A NP_001730.1:p.Val157Ile
XM_011523309.1:c.469G>A XP_011521611.1:p.Val157Ile
XM_011523310.1:c.469G>A XP_011521612.1:p.Val157Ile
XR_933417.1:n.588G>A
NM_001739.2:c.469G>A MANE Select NP_001730.1:p.Val157Ile
XM_011523309.2:c.469G>A XP_011521611.1:p.Val157Ile
XM_017023646.1:c.469G>A XP_016879135.1:p.Val157Ile
XM_024450434.1:c.91G>A XP_024306202.1:p.Val31Ile
XR_002957839.1:n.594G>A
NM_001367225.1:c.469G>A NP_001354154.1:p.Val157Ile
NR_159798.1:n.548G>A
NR_159799.1:n.429G>A